Say-Barber-Miller syndrome
MeSH: C536618ORPHA: 3132
Overview
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Say-Barber-Miller syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismThin vermilion borderHypertelorismBroad nasal tipDeeply set eyeRod-cone dystrophyUpslanted palpebral fissureMacular degenerationOptic atrophyCarious teethTooth malpositionEczematoid dermatitisHirsutismUlnar deviation of the hand or of fingers of the handRotary nystagmusTalipes equinovalgusSpastic paraparesisHighly arched eyebrowHip dislocationAbnormal T cell morphologyBabinski signDecreased circulating IgG concentrationShort statureThoracic kyphoscoliosisLower limb hypertoniaGeneralized hyperreflexiaInfantile encephalopathyAbnormality of the hairlineFetal fifth finger clinodactylyAnkle clonusLingual dystoniaSparse eyebrowMicrocephalyGlobal developmental delayAbnormal facial shapeTransient hypogammaglobulinemia of infancyHypogonadismHigh palateSloping foreheadMicrognathiaMacrotiaProtruding earProminent nasal bridgeConvex nasal ridgeDelayed speech and language developmentCraniosynostosisScoliosisMultiple epiphyseal dysplasiaElbow flexion contracturePatellar hypoplasiaDecreased circulating immunoglobulin concentrationRecurrent patellar dislocationKnee flexion contractureErythema nodosumPanniculitisImpaired neutrophil chemotaxisPosteriorly rotated ears
Classification & Codes
MeSH Code
C536618Orphanet Code
ORPHA:3132Say-Barber-Miller syndrome
| MeSH | C536618 |
| Orphanet | ORPHA:3132 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO